Sturge-Weber syndrome
Encyclopedia
Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological
and skin
disorder. It is one of the phakomatoses
and is often associated with port-wine stain
s of the face, glaucoma
, seizures, mental retardation
, and ipsilateral leptomeningeal angioma
. It is characterized by proliferation of arteries of the brain, resulting in multiple angioma
s that occur on the same side as the physical signs described above. As a consequence, arteriovenous malformations often form. Normally, only one side of the head is affected.
Sturge-Weber is an embryonal
developmental anomaly resulting from errors in mesoderm
al and ectoderm
al development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology).
s accompanied by a large port-wine stain
birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries
around the ophthalmic branch of the trigeminal nerve
, just under the surface of the face. There is also malformation of blood vessels in the pia mater
overlying the brain on the same side of the head as the birthmark. This causes calcification
of tissue and loss of nerve cells in the cerebral cortex
. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and mental retardation
; about 50% will have glaucoma
(optic neuropathy often associated with increased intraocular pressure), which can be present at birth or develop later. Increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos
). Sturge–Weber syndrome rarely affects other body organs.
and MRI are most often used to identify intracranial abnormalities. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region
treatment may be used to lighten or remove the birthmark. Anticonvulsant
medications may be used to control seizures. Doctors recommend early monitoring for glaucoma, and surgery may be performed on more serious cases. When one side of the brain is affected and anticonvulsants prove ineffective, the standard treatment is neurosurgery to remove or disconnect the affected part of the brain (hemispherectomy
). Physical therapy
should be considered for infants and children with muscle weakness. Educational therapy
is often prescribed for those with mental retardation or developmental delays, but there is no complete treatment for the delays.
Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures so that the patient has only a few seizures that are much less intense than pre-surgery. Surgeons may also opt to "switch-off" the affected side of the brain.
The Hemispherectomy Foundation
was formed in 2008 to assist families with children who have Sturge-Weber Syndrome and other conditions that require hemispherectomy.
Neurology
Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...
and skin
Skin
-Dermis:The dermis is the layer of skin beneath the epidermis that consists of connective tissue and cushions the body from stress and strain. The dermis is tightly connected to the epidermis by a basement membrane. It also harbors many Mechanoreceptors that provide the sense of touch and heat...
disorder. It is one of the phakomatoses
Phakomatoses
Phakomatoses are disorders of central nervous system that additionally result in lesions on the skin and the eye.These tissues have a common ectodermal origin...
and is often associated with port-wine stain
Port-wine stain
A port-wine stain or naevus flammeus is a vascular anomaly consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discoloration of the skin. They are so called for their colour, resembling that of port wine...
s of the face, glaucoma
Glaucoma
Glaucoma is an eye disorder in which the optic nerve suffers damage, permanently damaging vision in the affected eye and progressing to complete blindness if untreated. It is often, but not always, associated with increased pressure of the fluid in the eye...
, seizures, mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
, and ipsilateral leptomeningeal angioma
Angioma
Angiomas are benign tumors derived from cells of the vascular or lymphatic vessel walls or derived from cells of the tissues surrounding these vessels....
. It is characterized by proliferation of arteries of the brain, resulting in multiple angioma
Angioma
Angiomas are benign tumors derived from cells of the vascular or lymphatic vessel walls or derived from cells of the tissues surrounding these vessels....
s that occur on the same side as the physical signs described above. As a consequence, arteriovenous malformations often form. Normally, only one side of the head is affected.
Sturge-Weber is an embryonal
Embryology
Embryology is a science which is about the development of an embryo from the fertilization of the ovum to the fetus stage...
developmental anomaly resulting from errors in mesoderm
Mesoderm
In all bilaterian animals, the mesoderm is one of the three primary germ cell layers in the very early embryo. The other two layers are the ectoderm and endoderm , with the mesoderm as the middle layer between them.The mesoderm forms mesenchyme , mesothelium, non-epithelial blood corpuscles and...
al and ectoderm
Ectoderm
The "ectoderm" is one of the three primary germ cell layers in the very early embryo. The other two layers are the mesoderm and endoderm , with the ectoderm as the most exterior layer...
al development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology).
Symptoms
Sturge–Weber syndrome is manifested at birth by seizureSeizure
An epileptic seizure, occasionally referred to as a fit, is defined as a transient symptom of "abnormal excessive or synchronous neuronal activity in the brain". The outward effect can be as dramatic as a wild thrashing movement or as mild as a brief loss of awareness...
s accompanied by a large port-wine stain
Port-wine stain
A port-wine stain or naevus flammeus is a vascular anomaly consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discoloration of the skin. They are so called for their colour, resembling that of port wine...
birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries
Capillary
Capillaries are the smallest of a body's blood vessels and are parts of the microcirculation. They are only 1 cell thick. These microvessels, measuring 5-10 μm in diameter, connect arterioles and venules, and enable the exchange of water, oxygen, carbon dioxide, and many other nutrient and waste...
around the ophthalmic branch of the trigeminal nerve
Trigeminal nerve
The trigeminal nerve contains both sensory and motor fibres. It is responsible for sensation in the face and certain motor functions such as biting, chewing, and swallowing. Sensory information from the face and body is processed by parallel pathways in the central nervous system...
, just under the surface of the face. There is also malformation of blood vessels in the pia mater
Pia mater
Pia mater often referred to as simply the pia, is the delicate innermost layer of the meninges, the membranes surrounding the brain and spinal cord. The word finds its roots in Latin, meaning literally "tender mother." The other two meningeal membranes are the dura mater and the arachnoid mater....
overlying the brain on the same side of the head as the birthmark. This causes calcification
Calcification
Calcification is the process in which calcium salts build up in soft tissue, causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification.-Causes:...
of tissue and loss of nerve cells in the cerebral cortex
Cerebral cortex
The cerebral cortex is a sheet of neural tissue that is outermost to the cerebrum of the mammalian brain. It plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It is constituted of up to six horizontal layers, each of which has a different...
. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
; about 50% will have glaucoma
Glaucoma
Glaucoma is an eye disorder in which the optic nerve suffers damage, permanently damaging vision in the affected eye and progressing to complete blindness if untreated. It is often, but not always, associated with increased pressure of the fluid in the eye...
(optic neuropathy often associated with increased intraocular pressure), which can be present at birth or develop later. Increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos
Buphthalmos
Buphthalmos is a medical term that describes enlargement of the eyeball and is most commonly seen in infants and young children. It is sometimes referred to as buphthalmia . It usually appears in the newborn period or the first 3 months of life...
). Sturge–Weber syndrome rarely affects other body organs.
Imaging findings
CTComputed tomography
X-ray computed tomography or Computer tomography , is a medical imaging method employing tomography created by computer processing...
and MRI are most often used to identify intracranial abnormalities. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region
Treatment
Treatment for Sturge–Weber syndrome is symptomatic.LaserLaser surgery
Laser surgery is surgery using a laser to cut tissue instead of a scalpel. Examples include the use of a laser scalpel in otherwise conventional surgery, and soft tissue laser surgery, in which the laser beam vaporizes soft tissue with high water content...
treatment may be used to lighten or remove the birthmark. Anticonvulsant
Anticonvulsant
The anticonvulsants are a diverse group of pharmaceuticals used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of bipolar disorder, since many seem to act as mood stabilizers, and in the treatment of neuropathic pain. The goal of an...
medications may be used to control seizures. Doctors recommend early monitoring for glaucoma, and surgery may be performed on more serious cases. When one side of the brain is affected and anticonvulsants prove ineffective, the standard treatment is neurosurgery to remove or disconnect the affected part of the brain (hemispherectomy
Hemispherectomy
Hemispherectomy is a very rare surgical procedure where one cerebral hemisphere is removed or disabled. This procedure is used to treat a variety of seizure disorders where the source of the epilepsy is localized to a broad area of a single hemisphere of the brain...
). Physical therapy
Physical therapy
Physical therapy , often abbreviated PT, is a health care profession. Physical therapy is concerned with identifying and maximizing quality of life and movement potential within the spheres of promotion, prevention, diagnosis, treatment/intervention,and rehabilitation...
should be considered for infants and children with muscle weakness. Educational therapy
Educational Therapy
Educational Therapy is a form of therapy used to treat individuals with learning differences, disabilities, and challenges. This form of therapy offers a wide range of intensive interventions that are designed to remediate learning problems. These interventions are individualized and unique to the...
is often prescribed for those with mental retardation or developmental delays, but there is no complete treatment for the delays.
Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures so that the patient has only a few seizures that are much less intense than pre-surgery. Surgeons may also opt to "switch-off" the affected side of the brain.
Prognosis
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment.Foundations
The Sturge-Weber Foundation's (The SWF) international mission is to improve the quality of life and care for people with Sturge–Weber syndrome and associated Port Wine Birthmark conditions. It supports them with education, advocacy, and research to promote effective management and awareness. The SWF was founded by Kirk and Karen Ball, who began searching for answers after their daughter was diagnosed with Sturge-Weber Syndrome at birth. The SWF was incorporated in the USA in 1987 as an International 501(c)(3) non-profit organization. In 1992, the mission was expanded to include individuals with capillary vascular birthmarks, Klippel Trenaunay (KT) and Port Wine Birthmarks. For more information regarding the Sturge-Weber Foundation or Sturge-Weber Syndrome please visit our website.The Hemispherectomy Foundation
Hemispherectomy Foundation
The Hemispherectomy Foundation is a 501 non-profit organization founded to provide a support structure for children, and the families of children who have had or are preparing to have hemispherectomy brain surgery. The foundation also provides scholarships for college, trade schools, and summer...
was formed in 2008 to assist families with children who have Sturge-Weber Syndrome and other conditions that require hemispherectomy.